Foundation for Sarcoidosis Research (FSR)

Cycle 2

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Sarcoidosis is an inflammatory disease characterized by the formation of granulomas—tiny clumps of inflammatory cells—in one or more organs of the body. When the immune system goes into overdrive and too many of these clumps form, they can interfere with an organ’s structure and function. When left unchecked, chronic inflammation can lead to fibrosis, which is the permanent scarring of organ tissue.

Last updated 04/30/2026

Clinical

Disease Class

Cardiac diseases

Immunological diseases

Neurological diseases

Ophthalmic diseases

Respiratory diseases

Skin diseases

Systemic and rheumatological diseases

Body Systems

Cardiovascular / Circulatory

Endocrine

Hematopoietic / Lymphatic / Immune

Integumentary / Exocrine

Metabolic

Muscular / Skeletal

Nervous / Sensory

Renal / Urinary / Excretory

Reproductive

Respiratory

Organs

Adrenal glands

Arteries

Bladder

Blood

Bone marrow

Bones

Brain

Breasts

Connective tissue / joints

Ears

Esophagus

Eyes

Gallbladder

Hair

Heart

Intestines

Kidneys

Liver

Lungs

Lymph fluid, nodes, ducts, vessels

Mouth / teeth

Muscles

Nerves

Nose

Ovaries

Pancreas

Pituitary glands

Skin

Spinal cord

Spleen

Stomach

Testes

Throat/pharynx

Thyroid

Tonsils

Veins

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

HLA-DRB1

Contributory Genes

NOD2

Type of Inheritance

Not specified / unknown

Newborn Screening

Not applicable

Disease Mechanism(s)

Autoimmune Disease

mTOR pathways dysregulation

Age of Onset

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Elderly (age 65+)

Infancy (age 0-1)

Middle childhood (6-11)

Average Age at Diagnosis

Adulthood (age 18-64)

Life Expectancy

Adulthood (age 18-64)

Affected Sex(es)

Female

Intersex

Male

National Prevalence

10000+

Global Prevalence

10000+

National Incidence

51-100

Global Incidence

101-1000

Populations and/or ancestry with higher prevalence

African Americans 2-3x higher prevalence , Veterans 5 x higher prevalence, Japanese (cardiac only), Scandinavian countries

Symptoms / Phenotypes

balance problems

behavioral changes

breathing difficulties

cardiac abnormalities

cognitive impairment / confusion / brain fog

edema

fainting / syncope

fatigue

gastrointestinal disorders

headaches / migraines

joint pain / arthralgia

neuropathic pain

pain, chest

skin redness and/or swelling

sleep disorders

subcutaneous nodules

swollen lymph nodes

vertigo

vision problems

vitiligo

vomiting / nausea

weight gain

Biomarkers

Diagnostic

· serum and bronchoalveolar lavage biomarkers, imaging (chest x-ray, MRI, FDG-PET, CT), biopsy, ACE levels tools and cell signaling pathways. Fluor-18-deoxyglucose positron emission tomography and high-resolution computed tomography

Monitoring

· PROs, FDG-PET, CT, MRI, ACE Levelserum amyloid A (SAA), soluble interleukin-2 receptor (sIL-2R), lysozyme, angiotensin-converting enzyme (ACE), the glycoprotein KL-6, Pfts,levels of neopterin, elastase, chitotriosidase, glycoprotein Krebs von den Lungen, Th17 cell count, reduced quantity of TNF-α in peripheral blood or bronchoalveolar lavage fluid

Prognostic

· FDG-PET inflammation level, ACE, levels of neopterin, elastase, sIL-2R, chitotriosidase, glycoprotein Krebs von den Lungen, Th17 cell count, reduced quantity of TNF-α in peripheral blood or bronchoalveolar lavage fluid

Existing Therapies

Complementary and Alternative treatments

· anti-inflammatory diet, exercise, meditation/mindfulness

Expanded access (Compassionate Use)

Off-Label Drug Use

Regulatory Agency-Approved for Symptom Relief

· Corticotrophin, Ofev, Prednisone

Therapies in Development

Cellular therapies (stem cell transplants, CAR-T therapies, etc.)

Devices/medical equipment

Gene therapy

Immunotherapy

Repurposed drug

Therapeutic Development Stages

Awaiting final regulatory decision

IND/CTA submitted but not approved

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Access to registry or natural history study

Data analysis

Data sharing

Focus group participation or coordination

Funding

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Other

· Trial access improvement through Coalition to Transform Clinical Trial Engagement

Outcome measures development

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Results dissemination (including publications)

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

None

Cell Lines, Institution

None

Cell Lines, share

N/A

Disease Model

Mouse

Other

Disease Model, Involvement

Funded

Disease Model, share

Organizational Challenges

Getting Pharma partners to see the value of our partnerships

Clinical Trial Role

Data analysis

Data sharing

Focus group

Meeting with regulators

Other

Outcome measures, development

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Results dissemination, publication

Study material design, review (not protocol)

Study protocol design, review

Travel coordination

Clinical Trial Types

Observational

Phase 1

Phase 2

Phase 3

Biobank, Institution

National Disease Research Interchange (NDRI)

Biobank, Involvement

Consulted

Designed

Center of Excellence, Institution

Augusta University

Baylor College of Medicine

Cedars-Sinai

Cleveland Clinic

Clinic Barcelona

Corewell Health

Emory University

Henry Ford Health

Hospital for Special Surgery

Houston Methodist Hospital

Inova Health

Jefferson Health

Lahey Hospital

MedStar Hospital

Medical University of South Carolina

Mt. Sinai

NYU Langone Hassenfeld Childrens Hospital

National Jewish Health

Northwestern Memorial Hospital

Oklahoma Medical Research Foundation (OMRF)

Rutgers University

SUNY Upstate

Stanford University

Tampa General Hospital

Temple University Hospital

The Ohio State University (OSU)

Thomas Jefferson University Hospital

UTHealth Houston (The University of Texas Health Science Center at Houston)

University of Alabama

University of California, Los Angeles (UCLA)

University of Chicago

University of Colorado

University of Florida

University of Illinois Chicago

University of Kentucky

University of Minnesota

University of Mississippi

University of North Carolina (UNC)

University of Oklahoma

University of Pennsylvania (PENN)

University of Texas Southwestern Medical Center (UTSW)

University of Utah

University of Virginia (UVA)

Vanderbilt University

Virginia Commonwealth University

Washington University

WellSpan Health

West Virginia University Medicine

Yale University Hospital

Center of Excellence, Involvement

Consulted

Designed

Funded

Registry

Yes, we have a registry that we created

Data Collected, Registry

Clinical data

Electronic health records/electronic medical records

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Patients

Platform, Registry

Other

Natural History Study

Yes, we have a natural history study that we created

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Electronic health records/electronic medical records

Imaging data

Medication usage

Patient-reported outcomes

Prospective data

Retrospective data

Platform, Natural History Study

Other

FDA Patient Listening Session

Yes

FDA Patient-Focused Drug Development (PFDD) Program

Yes

ICD Codes

Yes, we have an ICD-10 code specific to our exact disease

Yes, we have an ICD-11 code specific to our exact disease

Diagnostic Guidelines

Yes, we have guidance available on our website

Yes, we have published formal guidelines in a peer-reviewed journal

Yes, we have accredited guidelines

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN and willing to share policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

None

Africa

Asia

Europe

Middle East

North America

South America

Europe

North America

South America